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cerebrocostomandibular syndrome - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

cerebrocostomandibular syndrome

MONDO:0007301

Also known as:CCM syndromeCCMScerebro-costo-mandibular syndrome

Overview

Cerebro-costo-mandibular syndrome (CCMS) is characterized at birth by posterior rib gaps and orofacial anomalies reminiscent of Pierre Robin syndrome that include palatal defects (short hard palate, absent soft palate, absent uvula), micrognathia and glossoptosis.

GeneticsAutosomal dominant · SNRPB (chr 20)

ResearchLimited published research (9 articles)

Clinical Presentation

Built from Human Phenotype Ontology (HPO) phenotype annotations and GeneReviews clinical descriptions. Features represent findings documented across known cases — not an exhaustive list of possible symptoms.

Features include very common findings: Pierre-Robin sequence; and common findings: Cleft palate, Conductive hearing impairment, Bell-shaped thorax, and High palate and others. 47 total HPO annotations.

Organ System	Phenotype Count	Example Features
Head and neck	6	Cleft lip, Short hard palate, Microcephaly

Genetic Landscape

SNRPB function has not been fully characterized.

Cerebrocostomandibular syndrome is associated with mutations in the SNRPB gene on chromosome 20.

Diagnosis

Genetic testing for SNRPB is available. Testing is considered confirmatory for diagnosis.

Biomarker and diagnostic research for cerebrocostomandibular syndrome has been reported in the published literature.

Prognosis

Phenotype severity distribution: 1 very common feature, 6 common features.

Estimated prevalence: <1 in 1,000,000 (VERY_RARE).

Research Landscape

Sourced from ClinicalTrials.gov and PubMed. Publication types are classified using NLM-curated article metadata; research type breakdowns reflect the nature of published work for this disease.

No clinical trials have been registered for cerebrocostomandibular syndrome.

9 publications have been identified in PubMed for cerebrocostomandibular syndrome. Research spans Case Report / Case Series (56%), Basic Science / Preclinical (22%), and Diagnostic / Biomarker (11%).

Recent Publications

Slear E (2026). [PMID: 41727730](https://pubmed.ncbi.nlm.nih.gov/41727730/). *Case reports in genetics*. [Case Report / Case Series]
Gerstner S (2025). [PMID: 41283296](https://pubmed.ncbi.nlm.nih.gov/41283296/). *Disease models & mechanisms*. [Basic Science / Preclinical]
Flemming KD (2024). [PMID: 39074404](https://pubmed.ncbi.nlm.nih.gov/39074404/). *Journal of clinical neuroscience : official journal of the Neurosurgical Society of Australasia*. [Basic Science / Preclinical]
Goergen S (2024). [PMID: 39317943](https://pubmed.ncbi.nlm.nih.gov/39317943/). *Prenatal diagnosis*. [Epidemiology / Natural History]
Mirfazeli A (2024). [PMID: 37093738](https://pubmed.ncbi.nlm.nih.gov/37093738/). *The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial Association*. [Case Report / Case Series]

Data assembled from 6 of 12 sources · Last updated Oct 3, 2026, 8:12 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:117650

Orphanet

European rare disease database

Orphanet:1393

GARD

Genetic and Rare Diseases Info Center

GARD:6026

Questions for Your Care Team

→Should I pursue genetic testing for SNRPB, and what would the results mean for my family?
→Are there specialists or centers of excellence for this condition in my area?
→Is there a patient registry I should consider joining?

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cerebrocostomandibular syndrome

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Recent Publications

Medical References

External Resources

OMIM

Orphanet

GARD

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Questions for Your Care Team

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